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BRCA2

BRCA2 DNA repair associated

HCNC Approved Symbol
BRCA2 (HGNC:1101)
Genomic Coordinates
13:32,315,508 - 32,400,268 (13q13.1)
Synonyms
FAD, FAD1, BRCC2, XRCC11, FANCD1, FACD, FANCD
Disease Associations
This gene is associated with the following 8 diseases in OMIM.

Diagnosed Cases

53Patients

In total, 53 patients were diagnosed with a variant in the BRCA2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Breast carcinoma
 8 (15.1%)
Left ventricular hypertrophy
 
6 (11.3%)
Epilepsy
 
5 (9.4%)
Global developmental delay
 
5 (9.4%)
Microcephaly
 
5 (9.4%)
BRCA2 - Gene browser | 3billion